ClinVar Miner

Submissions for variant NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)

dbSNP: rs797045053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191104 SCV000245505 likely pathogenic Intellectual disability, autosomal dominant 20 2014-07-28 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in an 18-year-old female with intellectual disability, mixed tone, quadriparesis, sialorrhea, intractable seizures, dysmorphisms, osteopenia, microcephaly
GenomeConnect, ClinGen RCV000191104 SCV000607110 not provided Intellectual disability, autosomal dominant 20 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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